Article
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Physiological genomics - 1 Apr 2017
Biswas Pooja, Duncan Jacque L, Maranhao Bruno, Kozak Igor, Branham Kari, Gabriel Luis, Lin Jonathan H, Barteselli Giulio, Navani Mili, Suk John, Parke Michelle, Schlechter Catherine, Weleber Richard G, Heckenlively John R, Dagnelie Gislin, Lee Pauline, Riazuddin S Amer, Ayyagari Radha
Abstract excerpt
Our purpose was to identify causative mutations and characterize the phenotype associated with the genotype in 10 unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation were carried out in 10 pedigrees with inherited retinal degenerations (IRD). Exomes of probands from eight pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was...
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